Monogenic causes account for up to 20% of nephrolithiasis instances and are crucial for developing targeted treatments. Whole-exome sequencing, genome-wide association, candidate gene, and in vitro and animal functional studies are crucial to identify these mutations. Therapies targeting monogenic variants, such as RNA-interference-based treatments, have been successfully used to treat monogenic disorders.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11648848PMC
http://dx.doi.org/10.1038/s41585-024-00880-0DOI Listing

Publication Analysis

Top Keywords

evolving landscape
4
monogenic
4
landscape monogenic
4
monogenic nephrolithiasis
4
nephrolithiasis therapeutic
4
therapeutic innovations
4
innovations monogenic
4
monogenic account
4
account 20%
4
20% nephrolithiasis
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!